Items where Funder is MOTOR NEURONE DISEASE ASSOCIATION.

The University of Leeds

Howard, J., Bekker, H. L. orcid.org/0000-0003-1978-5795, McDermott, C. J. et al. (1 more author) (2025) Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421

Howard, J., Bekker, H.L orcid.org/0000-0003-1978-5795, McDermott, C.J. et al. (1 more author) (2024) Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service. Journal of Medical Genetics. ISSN 0022-2593

Howard, J., Bekker, H.L. orcid.org/0000-0003-1978-5795, Mcdermott, C.J. orcid.org/0000-0002-1269-9053 et al. (1 more author) (2024) A report of resources used by clinicians in the UK to support motor neuron disease genomic testing. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 25 (3-4). pp. 410-412. ISSN 2167-8421

The University of Sheffield

Boddy, S., Islam, M. orcid.org/0000-0002-2296-0120, Moll, T. et al. (17 more authors) (2022) Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis. Brain Communications, 4 (2). fcac069. ISSN 2632-1297

Pasniceanu, I.-S., Atwal, M.S., Souza, C.D.S. et al. (2 more authors) (2021) Emerging mechanisms underpinning neurophysiological impairments in C9ORF72 repeat expansion-mediated amyotrophic lateral sclerosis/frontotemporal dementia. Frontiers in Cellular Neuroscience, 15. 784833. ISSN 1662-5102

Ranganathan, R., Haque, S., Coley, K. et al. (3 more authors) (2020) Multifaceted genes in amyotrophic lateral sclerosis-frontotemporal dementia. Frontiers in Neuroscience, 14. 684. ISSN 1662-4548

Castelli, L.M., Lin, Y.H., Ferraiuolo, L. et al. (6 more authors) (2018) SRSF1-dependent nuclear export of C9ORF72 repeat-transcripts: targeting toxic gain-of-functions induced by protein sequestration as a selective therapeutic strategy for neuroprotection. Therapeutic Targets for Neurological Diseases, 4. e1619. ISSN 2376-0478

Castelli, L.M., Lin, Y.-H., Sanchez-Martinez, A. et al. (19 more authors) (2023) A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. Science Translational Medicine, 15 (685). ISSN 1946-6234

Alix, J.J.P. orcid.org/0000-0001-8391-9749, McDonough, H.E., Sonbas, B. et al. (6 more authors) (2020) Multi-dimensional electrical impedance myography of the tongue as a potential biomarker for amyotrophic lateral sclerosis. Clinical Neurophysiology, 131 (4). pp. 799-808. ISSN 1388-2457

Allen, S., Hall, B., Castelli, L. et al. (19 more authors) (2019) Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis. Brain, 142 (3). pp. 586-605. ISSN 0006-8950

Myszczynska, M. and Ferraiuolo, L. orcid.org/0000-0001-9118-5714 (2016) New In Vitro Models to Study Amyotrophic Lateral Sclerosis. Brain Pathology, 26 (2). pp. 258-265. ISSN 1015-6305

Ferraiuolo, L. orcid.org/0000-0001-9118-5714, Meyer, K., Sherwood, T. et al. (12 more authors) (2016) Oligodendrocytes contribute to motor neuron death in ALS via SOD1 dependent mechanism. Proceedings of the National Academy of Sciences, 113 (42). E6496-E6505. ISSN 1091-6490

Howard, J., Bekker, H.L., Mcdermott, C.J. orcid.org/0000-0002-1269-9053 et al. (1 more author) (2024) A report of resources used by clinicians in the UK to support motor neuron disease genomic testing. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 25 (3-4). pp. 410-412. ISSN 2167-8421

Baxter, S.K. orcid.org/0000-0002-6034-5495 and McDermott, C.J. (2017) Decision-making and referral processes for patients with motor neurone disease: a qualitative study of GP experiences and evaluation of a new decision-support tool. BMC Health Services Research, 17. 339.

Howard, J. orcid.org/0000-0001-7182-593X, Bekker, H.L. orcid.org/0000-0003-1978-5795, McDermott, C.J. orcid.org/0000-0002-1269-9053 et al. (1 more author) (2025) Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421

Cooper-Knock, J., Moll, T., Ramesh, T. et al. (26 more authors) (2019) Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis. Cell Reports, 26 (9). 2298-2306.e5. ISSN 2211-1247

Shaw, M.P., Higginbottom, A. orcid.org/0000-0002-3246-6695, McGown, A. et al. (5 more authors) (2018) Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features. Acta Neuropathologica Communications, 6 (1). 125. ISSN 2051-5960

McGeachan, A.J., Hobson, E.V., Al-Chalabi, A. et al. (19 more authors) (2016) A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. ISSN 2167-8421

Jenkins, T.M., Alix, J.J. orcid.org/0000-0001-8391-9749, Kandler, R.H. et al. (2 more authors) (2016) The role of cranial and thoracic EMG within diagnostic criteria for ALS. Muscle and Nerve. ISSN 0148-639X

Rafiq, M.K., Bradburn, M., Proctor, A.R. et al. (4 more authors) (2015) A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16 (7-8). pp. 448-455. ISSN 2167-8421

Allen, S.P., Hall, B., Woof, R. et al. (16 more authors) (2019) C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis. Brain. 302. pp. 1-20. ISSN 0006-8950

Bauer, C.S., Webster, C.P., Shaw, A.C. et al. (12 more authors) (2022) Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation. Frontiers in Cellular Neuroscience, 16. 1061559. ISSN 1662-5102

Hobson, E.V. and McDermott, C.J. orcid.org/0000-0002-1269-9053 (2016) Supportive and symptomatic management of amyotrophic lateral sclerosis. Nature Reviews Neurology, 12 (9). pp. 526-538. ISSN 1759-4758

McGown, A., Shaw, D.P.J. and Ramesh, T. (2016) ZNStress: A high-throughput drug screening protocol for identification of compounds modulating neuronal stress in the transgenic mutant sod1G93R zebrafish model of amyotrophic lateral sclerosis. Molecular Neurodegeneration, 11 (1). 56. ISSN 1750-1326

McDermott, C.J., Shaw, P.J., Stavroulakis, T. et al. (24 more authors) (2015) Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study. Lancet Neurology, 14 (7). pp. 702-709. ISSN 1474-4422

White, M.A., Kim, E., Duffy, A. et al. (20 more authors) (2018) TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD. Nature Neuroscience, 21. pp. 552-563. ISSN 1097-6256

Shepheard, S.R., Parker, M.D. orcid.org/0000-0003-2999-3870, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (15 more authors) (2021) Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, 92 (5). pp. 510-518. ISSN 0022-3050

Watkins, J., Ghosh, A., Keerie, A.F.A. et al. (3 more authors) (2020) Female sex mitigates motor and behavioural phenotypes in TDP-43Q331K knock-in mice. Scientific Reports, 10 (1). 19220.

Varcianna, A.E., Myszczynska, M.A., Castelli, L.M. et al. (9 more authors) (2019) Micro-RNAs secreted through astrocyte-derived extracellular vesicles cause neuronal network degeneration in C9orf72 ALS. EBioMedicine, 40. pp. 626-635. ISSN 2352-3964

Webster, C.P., Smith, E.F., Bauer, C.S. et al. (12 more authors) (2016) The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy. EMBO Journal, 35 (15). pp. 1656-1676.

Langley, J., Pancani, S., Kilner, K. et al. (8 more authors) (2018) A comfort assessment of existing cervical orthoses. Ergonomics, 61 (2). pp. 329-338. ISSN 0014-0139

Allen, S.P., Hall, B., Castelli, L. orcid.org/0000-0003-3620-4219 et al. (11 more authors) (2018) Inosine reverses motor neuron toxicity observed in amyotrophic lateral sclerosis patient astrocytes with an adenosine deaminase deficiency. In: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 20th European Bioenergetics Conference, 25-30 Aug 2018, Budapest, Hungary. Elsevier BV , e23-e23.

Hobson, E.V. orcid.org/0000-0002-8497-2338, Baird, W., Cooper, C. et al. (3 more authors) (2016) Using technology to improve access to specialist care in amyotrophic lateral sclerosis: A systematic review. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17 (5-6). pp. 313-324. ISSN 2167-8421

Schooling, C.N., Healey, T.J., McDonough, H.E. et al. (5 more authors) (2022) Tensor electrical impedance myography identifies bulbardisease progression in amyotrophic lateral sclerosis. Clinical Neurophysiology, 139. pp. 69-75. ISSN 1388-2457

Hautbergue, G.M. orcid.org/0000-0002-1621-261X, Castelli, L.M., Ferraiuolo, L. et al. (23 more authors) (2017) SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nature Communications, 8. 16063 (201.

Allen, S.P. orcid.org/0000-0003-4418-7375, Al Sultan, A., Kabucho Kibirige, E. et al. (13 more authors) (2023) A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations. Frontiers in Aging Neuroscience, 15. 1151848. ISSN 1663-4365